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PMID: 18308288 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

American journal of human genetics ·Vol. 82 ·No. 3 ·2008-03-00 ·Pages 756-62

Everett KV, Chioza BA, Georgoula C, Reece A, Capon F, Parker KA, Cord-Udy C, McKeigue P, Mitton S, Pierro A, Puri P, Mitchison HM, Chung EM, Gardiner RM

Abstract

Infantile hypertrophic pyloric stenosis (IHPS) has an incidence of 1-8 per 1000 live births and is inherited as a complex sex-modified multifactorial trait with a striking male preponderance. Syndromic and monogenic forms exist, and two loci have been identified. Infants present with vomiting due to gastric-outlet obstruction caused by hypertrophy of the smooth muscle of the pylorus. A genome-wide SNP-based high-density linkage scan was carried out on 81 IHPS pedigrees. Nonparametric and parametric linkage analysis identified loci on chromosomes 11q14-q22 (Z(max) = 3.9, p < 0.0001; HLOD(max) = 3.4, alpha = 0.34) and Xq23 (Z(max) = 4.3, p < 0.00001; HLOD(max) = 4.8, alpha = 0.56). The two linked chromosomal regions each harbor functional candidate genes that are members of the canonical transient receptor potential (TRPC) family of ion channels and have a potential role in smooth-muscle control and hypertrophy.

MeSH Terms
Chromosome Mapping Chromosomes, Human, Pair 11/genetics Female Genetic Linkage Genetic Predisposition to Disease Genome, Human/genetics Humans Infant Male Pedigree Polymorphism, Single Nucleotide Pyloric Stenosis, Hypertrophic/genetics Sex Ratio
Authors & Affiliations
14 authors, click to expand affiliations / ORCID
Everett Kate V
University College London Institute of Child Health, London WC1N 1EH, UK. kate.everett@ucl.ac.uk
Chioza Barry A
Georgoula Christina
Reece Ashley
Capon Francesca
Parker Keith A
Cord-Udy Cathy
McKeigue Paul
Mitton Sally
Pierro Agostino
Puri Prem
Mitchison Hannah M
Chung Eddie M K
Gardiner R Mark
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
1537-6605
DOI
10.1016/j.ajhg.2007.12.023
Email
kate.everett@ucl.ac.uk
Published
2008-03-00
Epub
2008-00-28
Pages
756-62
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC2427303
Subset
IM
External Links
PubMed source DOI: 10.1016/j.ajhg.2007.12.023 PMC Full Text View journal details
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